Noonan Syndrome: 20 Facts You Didn’t Know

Noonan Syndrome: 20 Facts You Didn’t Know

Noonan syndrome is a genetic disorder that affects most parts of the body usually caused by several genetic mutations in one of several genes that control the development of the body. The condition may be inherited as an autosomal dominant condition or even occur as a new mutation.

The condition has no cure but treatment is based on the symptoms and underlying problems. It has many symptoms including Defects, Short stature, Delayed development, Distinctive feeding problems, Vision problems, Bleeding disorders, Skin problems, Learning disabilities, and skeletal problems.

It happens mostly in newborns and most commonly in boys than girls. Let’s take a look at some of the facts you didn’t know about the Noonan syndrome:

1. It is more common in boys than girls

It is X-linked inheritance this is because boys require to have only one X chromosome which they can get from a carrier mother to get the disease, however, females must have two such genes one from the father and one from the mother.

Because of the seriousness of the condition boys with Noonan rarely breed. Therefore there is very little chance of a female inheriting the Noonan gene from the father. The result is that the disease is much more common in boys than girls.

2. People with it can live healthy lives

Christopher Voelker, CC BY 3.0, via Wikimedia Commons

Another unknown fact about the Noonan syndrome is that it is not a death sentence and people with it can live long and healthy lives this is because people with this condition can have a normal life expectancy and can attend school, hold jobs, and even participate in all aspects of life.

The condition is also manageable as people with it can numerous things to manage the syndrome like eating a healthy diet to get the much-needed nutrients to develop properly, getting regular exercises, and seeing a doctor regularly to identify any potential complications early so that they can be treated promptly.

3. Noonan is not contagious

Noonan syndrome is not contagious because it is a genetic mutation which means that it cannot be transmitted or spread through contact with affected people. Since the condition is not caused by any virus or bacteria it cannot be spread from one person to another.

Most people may be wondering whether to avoid people with the Noonan syndrome well here is your answer the Noonan syndrome is not a risk to you or your health. The Syndrome does not also come as a result of a mistake of the parents which they did during pregnancy.

4. There is hope for a cure in the future

Gregor Nosan, Sara Bertok, Samo Vesel, Helger G. Yntema, and Darja Paro-Panjan, CC BY 4.0, via Wikimedia Commons

Another great fact about the Noonan Syndrome is that though there is no cure currently, there is hope for a cure in the future this is because researchers are working on different approaches to curing the disorder including gene editing, stem cell therapy, targeted drug therapies, and many more.

These scientific researches give the world a ray of hope for those with Noonan Disorder and even those with families and relatives with the disorder. However, while there is a long way to go until we have a working cure there is reason to be hopeful for a cure to be found in the future.

5. It is named after the person who discovered it

Another little-known fact about the Noonan syndrome is that it is named after Dr. Jacqueline Noonan a pediatric cardiologist who identified it in 1963. The doctor was working at the University of Lowa Stead Family Children’s Hospital at the time and noticed a group of children with the same symptoms.

She went on to publish her findings in a journal that same year, where she described the nine children who she had observed with this syndrome. The discovery was groundbreaking and she was later credited with the discovery and had the syndrome named after her.

6. The Noonan syndrome can cause fertility problems in both genders

The Noonan syndrome also causes fertility problems in both males and females including undescended testicles, low sperm count and abnormal sperm morphology in men irregular menstrual cycles, ovulation problems, and polycystic ovary syndrome in women.

It’s however important to note that not everyone with the Noonan syndrome will experience fertility problems many people with the Noonan syndrome can conceive naturally and there are several treatments for fertility problems available depending on the individual’s specific problems.

7. There is a foundation for people with Noonan Syndrome

Another lesser-known fact about Noonan syndrome is that there is an organization that supports and educates people with the syndrome and their families. The Noonan Syndrome Foundation (NSF) which was founded in 1981 by a group of parents of children with the condition is tasked with improving the lives of people with the syndrome and their families.

The NSF achieves its mission through supporting education and research and its headquarters in Cherry Hill, New Jersey, and is also a member of the National Organization for Rare Disorders (NORD). The NSF also has a website which is a comprehensive resource for information about the Noonan syndrome.

8. The is no way to prevent Noonan Syndrome

Konstantinos C Soultanis, Alexandros H Payatakes, Vasilios T Chouliaras, Georgios C Mandellos, Nikolaos E Pyrovolou, Fani M Pliarchopoulou and Panayotis N Soucacos, CC BY 2.0, via Wikimedia Commons

There is also no way of preventing the Noonan syndrome since it is passed down from one generation to another. The syndrome is also caused by genetic change which makes it harder or impossible to prevent because it comes from the genes of different generations.

There are however different ways of managing the syndrome some of which include getting regular medical checkups from doctors and following the doctors’ recommendations for the right treatment of the Noonan syndrome.

9. There are several successful people with the Noonan syndrome

Christopher Voelker, CC BY 3.0, via Wikimedia Commons

Another little-known fact is that there are several successful people known to suffer from the Noonan syndrome. This simply means that having this medical condition does not define who a person is going to be or is, people with Noonan syndrome can be just as successful as any other person out there.

Several people with Noonan syndrome are achieving great things in their lives and they include actress Jamie Brewer, actor Chris Burke, actor Sean Patrick Thomas, comedian Josh Blue, and Lizzie Velasquez all of whom are doing well in their various roles in the entertainment industry and have been among the most lauded and successful people with medical conditions.

10. Its diagnosis is based on a combination of different tests

The Diagnosis of Noonan syndrome is based on a combination of clinical findings, genetic testing, and imaging studies. It is usually done by a doctor typically a geneticist or pediatrician and a doctor will consider the person’s clinical findings, genetic testing results, and imaging results when making a diagnosis.

The doctor also needs to consider other medical conditions with similar symptoms so that the diagnosis will generate the required outcome. He can also offer counseling which can be helpful to the patient and by providing more information about the condition.

11. People with Noonan syndrome are very strong and resilient

Another unknown fact about Noonan syndrome is that most people with it are very strong and resilient when it comes to overcoming obstacles and challenges in their lives. Some of the challenges they face day in and day out include medical problems, bullying and discrimination, and even low expectations from others.

Despite the challenges these people meet day in and day out, they are at the end of the day able to overcome these challenges and live a fulfilled life. The best thing about these people is that they push themselves to prove their haters wrong and have become a very important part of the community.

12. People with the Noonan syndrome may be at a risk of certain complications

Konstantinos C Soultanis, Alexandros H Payatakes, Vasilios T Chouliaras, Georgios C Mandellos, Nikolaos E Pyrovolou, Fani M Pliarchopoulou and Panayotis N Soucacos, CC BY 2.0, via Wikimedia Commons

People with this Noonan syndrome have a normal life expectancy but may be at risk of certain complications like heart failure, cancer, hearing loss, Vision problems, learning disabilities, feeding difficulties, growth problems, skin problems, and blood clotting problems.

The way however to manage this complication one needs to get a medical checkup and follow every prescription from the doctor because it is important to live a healthy and long life. People with Noonan syndrome can just be as successful as anyone else.

13. The Noonan syndrome can affect people of all races and ethnicity

Apart from the fact that the Noonan syndrome can affect people from both genders, it can also affect people from all races and ethnicities. Since it is a genetic disorder and is caused by mutations which is inherited or occur as a new mutation then it means that it can affect anybody in the world.

It is estimated that the Noonan syndrome affects around 1 in 1000-2500 people across the globe which makes it a normal day-to-day condition that can affect anyone. This is evident because there have been cases of Noonan syndrome from across the world and there are several famous people who have it.

14. There are several family support groups in existence

Another fact is that there are several family support groups and online communities that are in existence and they help provide emotional support and sharing of important information amongst families who are affected by the syndrome.

These groups also help provide information and connect victims to others with the same condition. Some of these groups include the Noonan Syndrome Foundation, the Children’s Hospital of Philadelphia, Boston ChildreHospitalital, and Seattle Children’s Hospital.

15. The Noonan syndrome requires individualized treatment plans

Gregor Nosan, Sara Bertok, Samo Vesel, Helger G. Yntema, and Darja Paro-Panjan, CC BY 4.0, via Wikimedia Commons

Another important fact is that Noonan syndrome requires individualized treatment plans because of the unique symptoms and challenges faced and displayed by each person with this condition which makes it difficult to describe a certain medical plan for everyone.

The individualized treatment plans include: medications, surgery, and therapy and are developed by a team of specialists including medical doctors, genetic counselors, and therapists who work with each family and patient to develop a plan that meets the individual’s specific needs.

16. There is a need for the feeding tube usage in Noonan syndrome

There is also a need to use the feeding tube usage in some cases of Noonan syndrome where people with the condition need help with feeding to get the desired nutrients they need to maintain a healthy life and weight.

There are two main types of feeding tubes used which include: The Nasogastric (NG) tubes which are inserted through the nose to the stomach and Gastrostomy (G) tubes which are inserted directly into the stomach through the small incision in the abdomen.

17. There is also a need for life skills training for Noonan syndrome victims

Life skills are some of the requirements for people with Noonan syndrome to live independently and achieve their goals in life. The life skills training involves a wide range of topics such as self-care skills, household management skills, money skills, social skills, job skills, problem-solving skills, and decision-making skills.

The life skills training can be provided in a variety of institutions or settings including schools, community centers, and private practices. Life practices also benefit people with this syndrome in several ways including improved independence, increased self-confidence, improved social skills, and even increased employability.

18. People with Noonan syndrome may find it difficult to express emotions

People with this condition may also find it very difficult to express their emotions this is due to different factors which include: personality, experience, mental health conditions, and neurological conditions.

People with this condition are advised to do some of the following things including: identifying one’s emotions, accepting one’s expressing one’s emotions more healthily, being patient with oneself, not being afraid to ask for help, and celebrating any successes that they get.

19. People with the condition can benefit from inclusivity

Another important fact about the Noonan syndrome is that people with this condition can benefit from inclusivity more so inclusive education which ensures that all students regardless of their abilities or status and disabilities learn together in the same classroom and same institutions.

This can help them overcome their fears and even perform better than those who attend separate settings. People with this syndrome also get social and emotional benefits as they get to learn and do things like any other normal people out there.

20. People with Noonan syndrome may have a higher pain threshold

Gregor Nosan, Sara Bertok, Samo Vesel, Helger G. Yntema, and Darja Paro-Panjan, CC BY 4.0, via Wikimedia Commons

Lastly, people with this syndrome may experience more pain or have difficulties in communicating their pain which necessitates attentive care and monitoring carefully and closely. This is because the Noonan syndrome can affect the central nervous system which is responsible for processing pain signals.

The reason why the Noonan syndrome people have higher pain thresholds is because they have altered pain perception, difficulties in communicating pain, and other medical conditions. This leaves a great concern to those who take care of them to provide them with the best care possible.

We conclude that since these people are human just like us we should always be there for them and make them enjoy and experience life to the fullest. They need us the same we need them and we can coexist giving each other the support we need, that’s the least we can do for them.